B. Peterlin

Novel MBTPS1 variant associated with Kondo-Fu syndrome with expanded skeletal manifestations and a distinctive biochemical profile

Kondo-Fu syndrome is an ultra-rare genetic disorder caused by variants in the MBTPS1 gene, which plays a key role in lysosomal function and skeletal homeostasis. Clinical presentation is characterized by spondyloepiphyseal dysplasia, low bone mineral density, and cataracts. This study aimed to expand the clinic...

The landscape of structural variants in male infertility identified by optical genome mapping

We aimed to determine what kind of structural genomic variants can be detected by optical genome mapping in patients with male infertility and whether such variants may contribute to male infertility. We performed a longitudinal case/control genetic study on patients with male infertility, negative for cytogenetic...

Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study

Objective This study aimed to assess the diagnostic yield, clinical indications, and utility of next-generation sequencing (NGS) testing since its implementation through collaboration between the University of Rijeka Faculty of Medicine and the Clinical Hospital Centre Rijeka. Materials and Methods This retrospective s...

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease

Background and Objectives The aim of this study was to present a case report of the first familial case of multiple sclerosis (MS) in an X-linked Charcot-Marie-Tooth family with a novel variant in GJB1. Methods Clinical, neurophysiologic, neuroimaging, and genetic assessments were performed on 9 affected members of a l...

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.